ArticleInternational journal of clinical oncology2026
Limited reliability of H3K27M detection using a commercially available blood-based comprehensive genomic profiling test in patients with diffuse midline gliomas: analysis of the nationwide C-CAT database in Japan.
Article in International journal of clinical oncology, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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Abstract
backgroundThis study aimed to assess the ability of FoundationOne Liquid CDx (F1 Liquid), a blood-based comprehensive genomic profiling test introduced in Japan in 2021, to detect the H3K27M mutation in patients with diffuse midline glioma using a nationwide real-world database in Japan.
methodsWe identified patients with IDH-wildtype diffuse gliomas in midline locations registered in the Center for Cancer Genomics and Advanced Therapeutics database from June 2019 to April 2024. Detection rates of the H3K27M mutation and other major variants were compared across two blood-based comprehensive genomic profiling tests, F1 Liquid and Guardant360 CDx, and three tissue-based, FoundationOne CDx (F1 CDx), NCC Oncopanel, and GenMine TOP. Predictors of H3K27M mutation detection were analyzed using logistic regression.
resultsWe identified 114 patients with diffuse gliomas located in the midline. Among these, 31.6% underwent F1 Liquid testing, which had only a 2.8% detection rate for the H3K27M mutation. In contrast, F1 CDx testing had a significantly higher detection rate of 92.2% (p < 0.01). Not undergoing F1 Liquid testing was the only independent predictor of H3K27M detection (odds ratio, 267; 95% confidence interval, 44.4-5250; p < 0.01). F1 Liquid also showed low detection rates for TP53 (2.8%), PDGFRA (0%), and NF1 (2.8%).
conclusionOur findings indicate a critical limitation of F1 Liquid in detecting the H3K27M and other significant mutations in diffuse midline glioma.
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